Reference Report

Reference
Citation	Wang, C., Ma, Z., Scott, M.P., Huang, X. (2011). The cholesterol trafficking protein NPC1 is required for Drosophila spermatogenesis. Dev. Biol. 351(1): 146--155. (Export to RIS)
FlyBase ID	FBrf0212972
Publication Type	Research paper
PubMed ID	21215267
PubMed Abstract	Niemann-Pick C (NPC) disease is a lethal neurodegenerative disorder affecting cellular sterol trafficking. Besides neurodegeneration, NPC patients also exhibit other pleiotropic conditions, indicating that NPC protein is required for other physiological processes. Previous studies indicated that a sterol shortage that in turn leads to a shortage of steroid hormones (for example, ecdysone in Drosophila) is likely to be the cause of NPC disease pathology. We have shown that mutations in Drosophila npc1, one of the two NPC disease-related genes, leads to larval lethal and male infertility. Here, we reported that npc1 mutants are defective in spermatogenesis and in particular in the membrane-remodeling individualization process. Interestingly, we found that ecdysone, the steroid hormone responsible for the larval lethal phenotype in npc1 mutants, is not required for individualization. However, supplying 7-dehydrocholesterol can partially rescue the male infertility of npc1 mutants, suggesting that a sterol shortage is responsible for the spermatogenesis defects. In addition, the individualization defects of npc1 mutants were enhanced at high temperature, suggesting that the sterol shortage may lead to temperature-sensitive defects in the membrane-remodeling process. Together, our study reveals a sterol-dependent, ecdysone-independent mechanism of NPC1 function in Drosophila spermatogenesis.
DOI	10.1016/j.ydbio.2010.12.042
Related Publication(s)
Recent Updates
Description	What does this section display? This section contains items that were added to this record for each release. It currently only tracks new links between this FlyBase report and other FlyBase data classes (e.g. genes, references, stocks) or controlled vocabulary terms (e.g. GO, anatomy terms). What does this section not display? This section does not currently display links that were removed or gene model changes.
Update Feed	Click the icon below to subscribe to this FlyBase record and receive updates automatically through your feed reader.
FB2013_03
FB2013_02
All updates	Click here to see a list of all updates to this record from FB2010_08 and on.
Associated Information
Comments
Associated Files
Other Information
Secondary IDs
Language of Publication	English
Additional Languages of Abstract
Also Published As
Parent Publication
Publication Type	Journal
Abbreviation	Dev. Biol.
Title	Developmental Biology
Publication Year	1959-
ISBN/ISSN	0012-1606
Data from Reference
Alleles (19)
	dib^F8 dib^P3 dib^Scer\UAS.cOa dj^{T:Avic\GFP-S65T} EcR³¹ EcR⁰⁶⁴¹⁰ EcR^{A-ΔC655.W650A.Scer\UAS} EcR^{dsRNA.A.Scer\UAS} EcR^M554fs EcR^V559fs Npc1a^{Scer\UAS.T:Avic\GFP-EYFP} Npc1a^unspecified Scer\GAL4^2-286 Scer\GAL4^C587 Scer\GAL4^Hsp83.PA Scer\GAL4^nos.PG Scer\GAL4^P0206 Scer\GAL4^ptc-559.1 Scer\GAL4^tub.PU
Constructs (8)
	P{dj-GFP.S} P{GAL4-nos.NGT} P{Hsp83-GAL4} P{tub-GAL4.U} P{UAS-dib.O} P{UAS-EcR.A.dsRNA} P{UAS-EcR.A.W650A} P{UAS-NPC1.YFP}
Genes (6)
	dib dj EcR Npc1a Osbp Scer\GAL4
Insertions (4)
	P{GAL4}C587 P{GAL4}P0206 P{GawB}2-286 P{GawB}ptc^559.1
Natural transposons (1)
	P-element